Variant report

Variant	rs1562305
Chromosome Location	chr2:113751613-113751614
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr2:113751401-113751885	HepG2	liver:	n/a	n/a
2	CREB1	chr2:113751409-113751865	HepG2	liver:	n/a	n/a
3	HNF4A	chr2:113751449-113751671	HepG2	liver:	n/a	chr2:113751588-113751596 chr2:113751590-113751598
4	CREB1	chr2:113751411-113751890	HepG2	liver:	n/a	n/a
5	FOXA2	chr2:113751379-113751776	HepG2	liver:	n/a	n/a
6	JUND	chr2:113751426-113751677	HepG2	liver:	n/a	n/a
7	HNF4A	chr2:113751400-113751696	HepG2	liver:	n/a	chr2:113751588-113751596 chr2:113751590-113751598
8	CEBPB	chr2:113751417-113751679	HepG2	liver:	n/a	n/a
9	HNF4G	chr2:113751351-113751771	HepG2	liver:	n/a	chr2:113751588-113751596 chr2:113751590-113751598
10	FOXA1	chr2:113751425-113751760	HepG2	liver:	n/a	n/a
11	FOXA1	chr2:113751258-113751861	HepG2	liver:	n/a	n/a
12	FOXA1	chr2:113751346-113751754	HepG2	liver:	n/a	n/a
13	JUN	chr2:113751466-113751734	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:113751007..113754364-chr2:113757829..113763549,5	K562	blood:
2	chr2:113751007..113752612-chr2:113760021..113762623,2	K562	blood:

Variant related genes	Relation type
ENSG00000232090	TF binding region
ENSG00000136694	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10188765	0.85[ASN][1000 genomes]
rs10206205	0.92[ASN][1000 genomes]
rs11123154	0.97[ASN][1000 genomes]
rs11674086	0.94[ASN][1000 genomes]
rs11676013	0.95[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap]
rs11690399	0.89[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs11897907	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs13029531	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs13029703	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs13030063	0.85[MKK][hapmap];0.85[YRI][hapmap]
rs1867827	0.97[ASN][1000 genomes]
rs1867828	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2305151	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4849142	0.85[MKK][hapmap];0.85[YRI][hapmap]
rs58593758	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6710007	0.85[MKK][hapmap];0.85[YRI][hapmap]
rs6744288	1.00[YRI][hapmap]
rs7559466	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7578034	0.91[ASN][1000 genomes]
rs7580877	0.94[ASN][1000 genomes]
rs879710	0.87[ASN][1000 genomes]
rs879711	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532471	chr2:113682449-113862981	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1007254	chr2:113726982-113887782	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv535894	chr2:113726982-113887782	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv874878	chr2:113742734-113776076	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1562305	ACOXL	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113750600-113754400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
2	chr2:113751000-113752000	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr2:113751200-113752200	Enhancers	HepG2	liver
4	chr2:113751200-113753200	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr2:113751200-113755600	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr2:113751400-113752000	Enhancers	Liver	Liver
7	chr2:113751400-113753000	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr2:113751400-113755600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr2:113751600-113753200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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